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Article

A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.

Biochemical and biophysical research communications - 7 Dec 2012

Chamkha Imen, Alila-Fersi Olfa, Mkaouar-Rebai Emna, Aloulou Hajer, Kifagi Chamseddine, Hachicha Mongia, Fakhfakh Faiza

Abstract excerpt

Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mutations in GAA...

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Source

Identifiers

PMID: 23131568
DOI: 10.1016/j.bbrc.2012.10.105

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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